結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)	TSC1	Pathogenic	9	135778090	135778090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006259,Tuberous sclerosis database (TSC1):TSC1_00151
single nucleotide variant	NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)	TSC1	Pathogenic	9	135778042	135778042	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006322,Tuberous sclerosis database (TSC1):TSC1_00155
single nucleotide variant	NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)	TSC1	Pathogenic	9	135778036	135778036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006332,Tuberous sclerosis database (TSC1):TSC1_00436
single nucleotide variant	NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	TSC1	Pathogenic	9	135778027	135778027	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006339,Tuberous sclerosis database (TSC1):TSC1_00156
single nucleotide variant	NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)	TSC1	Pathogenic	9	135778021	135778021	C	A	criteria provided, single submitter	ClinGen:CA006362,Tuberous sclerosis database (TSC1):TSC1_00157
single nucleotide variant	NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)	TSC1	Pathogenic	9	135777077	135777077	C	A	criteria provided, single submitter	ClinGen:CA006392,Tuberous sclerosis database (TSC1):TSC1_00230
single nucleotide variant	NM_000368.5(TSC1):c.2503-2A>G	TSC1	Pathogenic	9	135776226	135776226	T	C	criteria provided, single submitter	ClinGen:CA006547,Tuberous sclerosis database (TSC1):TSC1_00367
single nucleotide variant	NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)	TSC1	Pathogenic	9	135776220	135776220	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006565,Tuberous sclerosis database (TSC1):TSC1_00169
Deletion	NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	TSC1	Pathogenic	9	135776215	135776218	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006569,Tuberous sclerosis database (TSC1):TSC1_00170,Tuberous sclerosis database (TSC1):TSC1_00233
Duplication	NM_000368.5(TSC1):c.2510dup (p.Asn837fs)	TSC1	Pathogenic	9	135776216	135776217	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA262301,Tuberous sclerosis database (TSC1):TSC1_00171